Ann Lab Med.
2017 Sep;37(5):462-464. 10.3343/alm.2017.37.5.462.
Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome
- Affiliations
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- 1Department of Pediatrics, Soonchunhyang University College of Medicine, Bucheon, Korea. dr4baby@naver.com
- 2Digestive Disease Center and Research Institute, Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon, Korea.
- 3Department of Laboratory Medicine, Mokpo Hankook Hospital, Mokpo, Korea.
- 4Department of Laboratory Medicine and Clinical Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- KMID: 2383928
- DOI: http://doi.org/10.3343/alm.2017.37.5.462
Abstract
- No abstract available.
MeSH Terms
Figure
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Fig. 1 Clinical findings of the patient with Peutz-Jeghers syndrome. (A) Hyperpigmentation was seen on the lip of the patient. (B) A huge pedunculated polyp was found in the sigmoid colon from the anal verge at 15 cm.
Fig. 2 Multiplex ligation-dependent probe amplification (MLPA) analysis of the STK11. There are reduced peaks in the patient sample (blue) compared with the normal control (red) in exons 1–10 (asterisks), indicating a heterozygous deletion of the entire STK11.
Reference
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